ClinVar Miner

List of variants studied for Peroxisome biogenesis disorder 8A (Zellweger)

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_004813.4(PEX16):c.346G>A (p.Val116Ile) rs10742772 0.99994
NM_004813.4(PEX16):c.542-16C>T rs3802758 0.80104
NM_004813.4(PEX16):c.873T>C (p.Tyr291=) rs1132349 0.79011
NM_004813.4(PEX16):c.*303C>T rs10838529 0.53226
NM_004813.4(PEX16):c.303C>T (p.Ala101=) rs80275010 0.02501
NM_004813.4(PEX16):c.*438C>T rs2280328 0.02139
NM_004813.4(PEX16):c.307G>A (p.Val103Met) rs11553094 0.01821
NM_004813.4(PEX16):c.760G>C (p.Val254Leu) rs35214605 0.01652
NM_004813.4(PEX16):c.*158A>C rs79435202 0.01440
NM_004813.4(PEX16):c.*65T>C rs16938413 0.00789
NM_004813.4(PEX16):c.*10C>T rs201127195 0.00197
NM_004813.4(PEX16):c.204G>T (p.Glu68Asp) rs149348130 0.00192
NM_004813.4(PEX16):c.*175C>A rs375099703 0.00055
NM_004813.4(PEX16):c.149-6C>T rs78883829 0.00041
NM_004813.4(PEX16):c.695-6C>T rs372182266 0.00036
NM_004813.4(PEX16):c.*107C>T rs201513691 0.00034
NM_004813.4(PEX16):c.*70C>G rs530762140 0.00027
NM_004813.4(PEX16):c.461A>G (p.Asp154Gly) rs140695185 0.00026
NM_004813.4(PEX16):c.1002T>C (p.Ser334=) rs144897515 0.00024
NM_004813.4(PEX16):c.726G>A (p.Ser242=) rs200414298 0.00016
NM_004813.4(PEX16):c.877C>T (p.Arg293Cys) rs544053792 0.00013
NM_004813.4(PEX16):c.*557G>C rs770223341 0.00010
NM_004813.4(PEX16):c.946G>A (p.Val316Ile) rs775371916 0.00009
NM_004813.4(PEX16):c.360-7G>A rs202161790 0.00007
NM_004813.4(PEX16):c.*53C>G rs369974509 0.00006
NM_004813.4(PEX16):c.616C>G (p.Leu206Val) rs375515674 0.00004
NM_004813.4(PEX16):c.*309G>C rs886048325 0.00003
NM_004813.4(PEX16):c.149-13C>G rs369471815 0.00002
NM_004813.4(PEX16):c.609C>T (p.His203=) rs537046144 0.00002
NM_004813.4(PEX16):c.694+11C>T rs763840804 0.00002
NM_004813.4(PEX16):c.699C>T (p.Leu233=) rs781411790 0.00002
NM_004813.4(PEX16):c.*277C>T rs886048326 0.00001
NM_004813.4(PEX16):c.197G>A (p.Arg66Gln) rs143737124 0.00001
NM_004813.4(PEX16):c.227C>T (p.Ser76Leu) rs139930879 0.00001
NM_004813.4(PEX16):c.526C>T (p.Arg176Ter) rs61752117 0.00001
NM_004813.4(PEX16):c.680G>A (p.Arg227Gln) rs754024503 0.00001
NM_004813.4(PEX16):c.730A>C (p.Lys244Gln) rs2086807349 0.00001
NM_004813.4(PEX16):c.812G>A (p.Arg271Gln) rs769838583 0.00001
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys) rs769772100 0.00001
NM_004813.4(PEX16):c.*324G>A rs879320611
NM_004813.4(PEX16):c.*376G>A rs143868125
NM_004813.4(PEX16):c.*376G>C rs143868125
NM_004813.4(PEX16):c.*491G>A rs886048324
NM_004813.4(PEX16):c.-63G>C rs532003586
NM_004813.4(PEX16):c.348C>T (p.Val116=) rs886048328
NM_004813.4(PEX16):c.454C>A (p.Pro152Thr) rs1357832796
NM_004813.4(PEX16):c.460+5G>A rs2134695257
NM_004813.4(PEX16):c.540C>G (p.Asn180Lys) rs886048327
NM_004813.4(PEX16):c.672C>T (p.Tyr224=) rs746173483
NM_004813.4(PEX16):c.706G>C (p.Gly236Arg) rs757071504
NM_004813.4(PEX16):c.861C>T (p.Arg287=) rs747883612
NM_004813.4(PEX16):c.918G>C (p.Leu306=) rs753109224
NM_004813.4(PEX16):c.952+2T>C rs267608185

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